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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
microphthalmia with limb anomalies
Summary
- Synonym
-
- MLA
- OAS
- Waardenburg anophthalmia syndrome
- anophthalmia-syndactyly syndrome
- ophthalmoacromelic syndrome
- Definition
- A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0060861
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13478 | Interleukin-18 receptor 1 | |
| Q7L5Y1 | Mitochondrial enolase superfamily member 1 |
